XPC

XPC complex subunit, DNA damage recognition and repair factor

Pharmacogene

Summary

The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

Known Variants816 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7765475613:14,186,649T/C—uncertain significance
rs5569738883:14,186,685A/G—uncertain significance
rs1876667223:14,186,759T/C—uncertain significance
rs10156823873:14,186,793G/A—uncertain significance
rs5481424113:14,186,817T/G—uncertain significance
rs24703523:14,186,830A/G—uncertain significance
rs8860580453:14,186,958T/G—uncertain significance
rs5549388313:14,186,989C/T—uncertain significance
rs8860580463:14,187,013C/T—uncertain significance
rs5642281323:14,187,171T/C—likely benign
rs1219650923:14,187,285C/Tregulatory region variantuncertain significance
rs7733323453:14,187,302C/A—uncertain significance
rs22290903:14,187,345G/Cregulatory region variantlikely benign
rs50310573:14,187,352C/G—uncertain significance
rs22280013:14,187,449G/Tmissense variantlikely benign
rs21250044573:14,187,450C/T—likely benign
rs24702138333:14,187,456T/C—likely benign
rs11781521653:14,187,465G/A—likely benign
rs21250045383:14,187,468G/A—likely benign
rs7650473143:14,187,474T/A—likely benign
rs7625760803:14,187,477T/C—likely benign
rs21250046043:14,187,480T/C—likely benign
rs37311773:14,187,482T/A—uncertain significance
rs12574206103:14,187,483C/G—uncertain significance
rs14866666483:14,187,492T/C—likely benign
rs7673468553:14,187,499T/G—uncertain significance
rs11586750883:14,187,501C/T—likely benign
rs21250047613:14,187,507C/A—likely benign
rs13128297053:14,187,510A/G—likely benign
rs13122693583:14,187,516C/T—likely benign
rs21250048223:14,187,518G/A—likely benign
rs3723948553:14,187,534A/G—likely benign
rs12386477953:14,187,541C/G—uncertain significance
rs1995277513:14,187,542G/A—uncertain significance
rs21250049723:14,187,549A/G—likely benign
rs24702148253:14,187,555G/T—likely benign
rs7758548303:14,187,558G/A—likely benign
rs7690936123:14,187,564C/T—likely benign
rs7730314243:14,187,567T/G—likely benign
rs12436492693:14,187,573G/T—likely benign
rs3688322103:14,187,576C/T—likely benign
rs16954209453:14,187,588A/G—likely benign
rs24702151143:14,187,591G/A—likely benign
rs24702152123:14,187,600C/T—likely benign
rs24702152243:14,187,603C/T—likely benign
rs7762661933:14,187,609A/T—uncertain significance
rs7535953773:14,187,611C/G—uncertain significance
rs7575470423:14,187,615A/G—likely benign
rs21250051783:14,187,618G/C—likely benign
rs10201306443:14,187,624A/G—likely benign
rs7583416283:14,187,630T/G—likely benign
rs1831674993:14,187,631G/C—uncertain significance
rs7817241383:14,187,639G/A—likely benign
rs7706877653:14,187,642G/C—likely benign
rs3758594723:14,187,643G/A—uncertain significance
rs24702154593:14,187,648T/C—likely benign
rs12442446003:14,187,651T/G—likely benign
rs15749466663:14,187,659T/C—uncertain significance
rs15536042513:14,187,661T/C—likely pathogenic
rs7591027193:14,187,663G/C—likely benign
rs9200320323:14,187,668G/A—likely benign
rs7714311363:14,187,675T/G—benign
rs14623121303:14,187,676G/A—likely benign
rs11637375473:14,187,677G/A—likely benign
rs7650442143:14,187,679G/T—likely benign
rs27335323:14,187,699T/C—benign
rs37311753:14,187,710T/C—benign
rs558769833:14,187,715G/A—likely benign
rs27335333:14,188,700C/A—benign
rs27335343:14,188,762G/C—benign
rs2017601963:14,188,770T/C—likely benign
rs12734345103:14,188,779C/G—likely benign
rs24702191733:14,188,780C/G—likely benign
rs16954786393:14,188,781T/C—likely benign
rs12737722703:14,188,793G/C—likely benign
rs7517597763:14,188,798C/T—uncertain significance
rs3701260123:14,188,799G/T—conflicting classifications of pathogenicity
rs7766451023:14,188,803C/T—uncertain significance
rs24702194163:14,188,814C/T—likely benign
rs7796753863:14,188,822T/C—uncertain significance
rs21250072273:14,188,838G/T—likely benign
rs13170502603:14,188,850C/T—pathogenic
rs24702196053:14,188,851C/T—pathogenic
rs557798313:14,188,857C/G—uncertain significance
rs14221084443:14,188,861G/A—likely benign
rs5431209333:14,188,866C/T—uncertain significance
rs5598446683:14,188,869T/C—uncertain significance
rs21250073043:14,188,874C/T—likely benign
rs7656844363:14,188,879T/A—likely pathogenic
rs3759101543:14,188,880C/T—likely pathogenic
rs9438421113:14,188,887C/G—likely benign
rs24702198353:14,188,889A/G—likely benign
rs12608462373:14,188,893T/C—likely benign
rs16954848343:14,188,894G/T—likely benign
rs559287663:14,189,077G/C—likely benign
rs22579843:14,189,147G/A—benign
rs26077493:14,189,340A/G—benign
rs12034680933:14,189,388A/G—likely benign
rs24702222933:14,189,389G/A—likely benign
rs12325392553:14,189,392C/G—likely benign

Showing 100 of 816 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.